Detection of Connexion 26 GENE (GJB2) Mutations in Cases of Congenital Non Syndromic Deafness
| Autor: | Hansa Banjara, Varsha Mungutwar, Neha Swarnkar, Pradeep K. Patra |
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| Rok vydání: | 2015 |
| Předmět: |
0301 basic medicine
Genetics medicine.diagnostic_test Hearing loss business.industry Pathogenic mutation Connexin Physical examination Genetic analysis 03 medical and health sciences Hearing disorder 030104 developmental biology Otorhinolaryngology medicine otorhinolaryngologic diseases Surgery Original Article medicine.symptom business Gene Non syndromic |
| Zdroj: | Indian journal of otolaryngology and head and neck surgery : official publication of the Association of Otolaryngologists of India. 68(2) |
| ISSN: | 2231-3796 |
| Popis: | Hearing loss is most common form of genetic hearing disorder. Non-syndromic sensory neural autosomal recessive deafness (NSRD) is the most common form of genetic hearing loss. Mutations in GJB2 gene, which encodes the connexin 26 protein, are major cause of NSRD. The aim of this study is directed towards the mutations caused along the connexin 26 gene using blood samples from nonsyndromic deaf children. The study was conducted on 36 congenitally hearing impaired children who visited to our department with complains of hearing loss and reduced speech and whose age was |
| Databáze: | OpenAIRE |
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